Quantifying single nucleotide variant detection sensitivity in exome sequencing
about
Achieving high-sensitivity for clinical applications using augmented exome sequencingCurrent status and new features of the Consensus Coding Sequence databaseCoverage recommendations for methylation analysis by whole-genome bisulfite sequencingEstimating genotype error rates from high-coverage next-generation sequence data.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Novel method for analysis of allele specific expression in triploid Oryzias latipes reveals consistent pattern of allele exclusionCataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular reportThe role of replicates for error mitigation in next-generation sequencing.Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.High throughput exome coverage of clinically relevant cardiac genes.CODOC: efficient access, analysis and compression of depth of coverage signals.Variant detection sensitivity and biases in whole genome and exome sequencing.Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeAnalysis of archived residual newborn screening blood spots after whole genome amplification.New insights into the performance of human whole-exome capture platforms.Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.Performance of exome sequencing for pharmacogenomics.REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERINGExome sequencing to detect rare variants associated with general cognitive ability: a pilot study.Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.Clinical exome performance for reporting secondary genetic findingsGenome-wide association study reveals putative regulators of bioenergy traits in Populus deltoides.Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in ChildrenResequencing studies of nonmodel organisms using closely related reference genomes: optimal experimental designs and bioinformatics approaches for population genomics.Indexcov: fast coverage quality control for whole-genome sequencing.Construction and assessment of individualized proteogenomic databases for large-scale analysis of nonsynonymous single nucleotide variants.Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.Pipeliner: software to evaluate the performance of bioinformatics pipelines for next-generation resequencing.Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.A framework for the estimation of the proportion of true discoveries in single nucleotide variant detection studies for human data.Comparison of whole-genome (13X) and capture (87X) resequencing methods for SNP and genotype callings
P2860
Q22000581-FA4BD154-D24F-4F17-990C-53B78D7FD486Q24567717-B64BC091-7CAF-4CEB-ACE3-1CFEE22B4518Q30622907-9D9574A0-1ACE-492B-B413-9EEACA67686BQ30859169-6141F465-CDEB-4E17-BAA5-D275A5529DB4Q31027821-19F5CD41-10CB-47F5-857F-752987D024A3Q33778898-1A6E45C0-D241-44AF-BC37-720A3FC3829CQ33850647-A3B669FF-C1A3-438C-A7B8-45DCC46ADF01Q33921022-8034E70A-C8C6-4F43-8715-0CDCB55C607FQ34237629-46C2ACFE-8758-4E7D-9970-8EA1E2DEB87DQ34748669-BC9B94D3-0BCF-49A6-A651-EB32C77B4FB3Q35175629-79EF7C86-CE13-4876-9A28-E1EAAB59C696Q35209205-C07368D5-D974-4896-9C21-58CB9E832513Q35237812-2C5FF93B-A194-4EE8-AF9D-C7D3D19A9298Q35744499-E2432DCC-C6BC-439D-9CF4-7E8B8AE46C9CQ35770586-05785A18-FF84-45A3-8194-29AAED523EB2Q35907757-357A6A29-C337-4828-85A4-A9618B0C96C2Q35919636-5645DF81-0AAE-4E3B-A52D-50FF083A6862Q36483446-C1D04B8D-16B8-47D1-A8F5-092E6568D864Q38466084-0F488E75-2BB1-4F25-ACE6-869D97B6F603Q39123382-355A68D4-5D18-4099-A0A5-8DCC3B72E104Q39824867-8E3F867F-B8CD-4773-AE6F-8966020C40F6Q40594147-6968ECDC-1691-46DE-846B-BBED23CF8F29Q42416083-0B8B673E-86B1-46AE-93AA-AEF56FC8B36EQ42658710-8784B79D-016F-4C99-8BE2-572799948FB1Q42695773-00DF0CEA-ED3E-43D1-BCF8-27F74BC71A61Q42775557-D29830CF-E130-4DAF-BA6D-2980A999E687Q43580712-580B1093-46E5-4FA7-88A5-1DDE65265502Q46885149-8F9D2A82-0D3C-4B44-A34F-1CBFFFDDB2EAQ47622861-557371BC-50E2-459D-A981-9FA5CDAB6CCEQ47986803-65115A4A-310F-4DE4-887A-AAD978986CBDQ55005115-B7A7A8D5-7CC1-446F-A8D2-DA7B6C0FE6F2Q57764652-7F42FF3D-6F3B-4962-BEDC-1BE2116DAC83
P2860
Quantifying single nucleotide variant detection sensitivity in exome sequencing
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@ast
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@en
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@nl
type
label
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@ast
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@en
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@nl
prefLabel
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@ast
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@en
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@nl
P2093
P2860
P356
P1433
P1476
Quantifying single nucleotide variant detection sensitivity in exome sequencing
@en
P2093
Alison M Meynert
Louise S Bicknell
Matthew E Hurles
P2860
P2888
P356
10.1186/1471-2105-14-195
P577
2013-06-18T00:00:00Z
P5875
P6179
1033209931